A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055647



Internal ID18798178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10420787..10511951hg38UCSC Ensembl
Innerchr21:11000506..11091670hg19UCSC Ensembl
Innerchr21:10022377..10113541hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3891165
hg1991165
hg1891165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4371n100
Supporting Variantsnssv3585132
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055647
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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